Variant report

Variant	nsv1067778
Chromosome Location	chr7:70356011-70537428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:70462545..70464219-chr7:70469088..70471612,2	K562	blood:
2	chr7:70462461..70464194-chr7:70473424..70476009,2	K562	blood:
3	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:
4	chr7:70462545..70464219-chr7:70469088..70471612,2	K562	blood:
5	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:
6	chr7:70462461..70464194-chr7:70473424..70476009,2	K562	blood:
7	chr7:70445361..70447643-chr7:70448432..70451410,2	K562	blood:
8	chr7:70472764..70475068-chr7:70478258..70480877,2	K562	blood:
9	chr7:70445361..70447643-chr7:70448432..70451410,2	K562	blood:
10	chr7:70472764..70475068-chr7:70478258..70480877,2	K562	blood:

No data

Extended variants
information (count: 5085 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5085 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184961635	chr7:70356047-70356048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115049470	chr7:70356048-70356049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1358355	chr7:70356055-70356056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569337988	chr7:70356066-70356067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539961355	chr7:70356077-70356078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188356030	chr7:70356093-70356094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181571516	chr7:70356095-70356096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530766053	chr7:70356104-70356105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199786198	chr7:70356130-70356131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144828855	chr7:70356180-70356181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574260302	chr7:70356212-70356213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538400874	chr7:70356244-70356245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562001976	chr7:70356324-70356325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567386985	chr7:70356325-70356326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35211298	chr7:70356335-70356336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574975668	chr7:70356353-70356354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545529429	chr7:70356362-70356363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563731950	chr7:70356512-70356513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572548525	chr7:70356525-70356526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555841996	chr7:70356555-70356556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549410229	chr7:70356558-70356559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539848963	chr7:70356637-70356638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575693742	chr7:70356652-70356653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561973447	chr7:70356724-70356725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529187087	chr7:70356795-70356796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550722925	chr7:70356807-70356808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562700070	chr7:70356825-70356826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138635217	chr7:70356858-70356859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141649535	chr7:70356875-70356876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185839149	chr7:70356893-70356894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150736781	chr7:70356918-70356919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549124794	chr7:70356934-70356935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117525692	chr7:70356953-70356954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541397079	chr7:70356995-70356996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1918422	chr7:70357024-70357025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556324306	chr7:70357060-70357061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7456741	chr7:70357061-70357062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574618576	chr7:70357148-70357149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191080133	chr7:70357155-70357156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139052977	chr7:70357159-70357160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572609872	chr7:70357177-70357178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540189229	chr7:70357201-70357202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182307122	chr7:70357219-70357220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186100211	chr7:70357250-70357251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62457797	chr7:70357251-70357252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369101509	chr7:70357254-70357255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79445760	chr7:70357270-70357271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149465994	chr7:70357321-70357322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533114455	chr7:70357328-70357329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10248926	chr7:70357329-70357330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70350800-70358000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:70355800-70358000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:70355800-70358000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:70356000-70359200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:70358000-70358200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:70358000-70361800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:70358000-70361800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:70358000-70362200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:70358200-70358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:70358200-70359600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:70358200-70359800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:70358200-70361800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:70358400-70360400	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:70358400-70361600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:70358600-70359000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr7:70358600-70359000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:70358600-70361600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:70358600-70361800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:70358600-70362200	Enhancers	Fetal Muscle Leg	muscle
20	chr7:70358800-70359600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:70358800-70360200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:70359000-70359400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:70359000-70359400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:70359000-70359400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:70359000-70359800	Enhancers	Fetal Intestine Large	intestine
26	chr7:70359000-70361800	Enhancers	Fetal Stomach	stomach
27	chr7:70359400-70359600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:70359400-70360400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:70359400-70361600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:70359600-70360000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:70359600-70360200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:70359600-70360800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:70359600-70361600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:70359600-70362200	Enhancers	Ovary	ovary
35	chr7:70359800-70360200	Enhancers	Adipose Nuclei	Adipose
36	chr7:70359800-70360600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr7:70360000-70360400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr7:70360200-70360400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:70360200-70361200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:70360200-70361800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:70360200-70362200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:70360400-70360600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
43	chr7:70360400-70360600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:70360400-70361200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:70360400-70361200	Enhancers	Fetal Lung	lung
46	chr7:70360400-70361600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:70360600-70361800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr7:70360600-70361800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:70360800-70361200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:70360800-70361600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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